Canonical Allele Identifier: CA2678088591
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039743-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039743C>T , CM000668.2:g.32039743C>T GRCh38
NC_000006.11:g.32007520C>T , CM000668.1:g.32007520C>T GRCh37
NC_000006.10:g.32115499C>T NCBI36
NG_007941.2:g.6436C>T
NG_008337.2:g.74632G>A
NG_007941.3:g.6439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.652-6C>T MANE Select ENSP00000496625.1:n.652-6C>T
ENST00000418967.6:c.652-6C>T ENSP00000408860.2:n.652-6C>T
ENST00000435122.3:c.562-6C>T ENSP00000415043.2:n.562-6C>T
ENST00000462278.1:n.335C>T
ENST00000464325.5:n.573-6C>T
ENST00000466779.5:c.*344-6C>T ENSP00000417321.1:n.*344-6C>T
ENST00000466879.5:n.703-6C>T
ENST00000479074.5:n.710-6C>T
ENST00000479730.5:n.768-6C>T
ENST00000483041.5:n.821-6C>T
ENST00000486063.5:n.832-6C>T
NM_000500.7:c.652-6C>T NP_000491.4:n.652-6C>T
NM_001128590.3:c.562-6C>T NP_001122062.3:n.562-6C>T
XM_011514314.1:c.247-6C>T XP_011512616.1:n.247-6C>T
NM_000500.9:c.652-6C>T MANE Select NP_000491.4:n.652-6C>T
NM_001368143.1:c.247-6C>T NP_001355072.1:n.247-6C>T
NM_001368144.1:c.247-6C>T NP_001355073.1:n.247-6C>T
NM_001128590.4:c.562-6C>T NP_001122062.3:n.562-6C>T
NM_001368143.2:c.247-6C>T NP_001355072.1:n.247-6C>T
NM_001368144.2:c.247-6C>T NP_001355073.1:n.247-6C>T